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English
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients
scientific article published in January 2001
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
title
Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
main subject
hereditary angioedema
1 reference
based on heuristic
inferred from title
author
Marco Cicardi
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
author name string
Duponchel C
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
Di Rocco C
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
Tosi M
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
publication date
1 January 2001
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
volume
17
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
page(s)
61-70
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
cites work
Measurement of locus copy number by hybridisation with amplifiable probes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Pathogenetic and clinical aspects of C1 inhibitor deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
High frequency of large intragenic deletions in the Fanconi anemia group A gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
A simplified procedure for developing multiplex PCRs
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Molecular genetics of C1 inhibitor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2F1098-1004%282001%2917%3A1%3C61%3A%3AAID-HUMU7%3E3.0.CO%3B2-9
retrieved
21 January 2018
Identifiers
DOI
10.1002/1098-1004(2001)17:1<61::AID-HUMU7>3.0.CO;2-9
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
PubMed ID
11139243
1 reference
stated in
Europe PubMed Central
PubMed ID
11139243
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11139243%20AND%20SRC:MED&resulttype=core&format=json
retrieved
11 May 2020
11139243
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